Allele Registry

Canonical Allele Identifier: PA2826253274

Gene: ALDH7A1 HGNC NCBI

ClinVar RCV:

RCV000493900

RCV001294984

ClinVar Variation:

430453

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188306.1:p.Cys183Phe	CA360731005 NM_001201377.2:c.548G>T